F30L (p.Phe30Leu) variant of CSRP3 (P50461)
F30L (p.Phe30Leu) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- rs2133516315
- ClinGen CA379888521
- ClinVar RCV001945394
- ClinVar RCV003375439
- Uncertain significance
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.86
- CADD 28.00
- PolyPhen-2 0.77
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)